Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

212 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.
Gandomi SK, Farwell Gonzalez KD, Parra M, Shahmirzadi L, Mancuso J, Pichurin P, Temme R, Dugan S, Zeng W, Tang S. Gandomi SK, et al. Among authors: dugan s. J Genet Couns. 2014 Jun;23(3):289-98. doi: 10.1007/s10897-013-9671-6. Epub 2013 Dec 4. J Genet Couns. 2014. PMID: 24306141
FAM20A mutations associated with enamel renal syndrome.
Wang SK, Reid BM, Dugan SL, Roggenbuck JA, Read L, Aref P, Taheri AP, Yeganeh MZ, Simmer JP, Hu JC. Wang SK, et al. Among authors: dugan sl. J Dent Res. 2014 Jan;93(1):42-8. doi: 10.1177/0022034513512653. Epub 2013 Nov 6. J Dent Res. 2014. PMID: 24196488 Free PMC article.
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Helbig KL, Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpää L, Karle KN, Synofzik M, Schöls L, Schüle R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR. Helbig KL, et al. Among authors: dugan sl. Ann Neurol. 2016 Oct;80(4):638-42. doi: 10.1002/ana.24762. Epub 2016 Sep 9. Ann Neurol. 2016. PMID: 27543892 Free PMC article.
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A, Haginoya K, Lev D, Blumkin L, Kivity S, Linder I, Shoubridge C, Palmer EE, Field M, Boyle J, Chitayat D, Gaillard WD, Kossoff EH, Willems M, Geneviève D, Tran-Mau-Them F, Epstein O, Heyman E, Dugan S, Masurel-Paulet A, Piton A, Kleefstra T, Pfundt R, Sato R, Tzschach A, Matsumoto N, Saitsu H, Leshinsky-Silver E, Lerman-Sagie T. Zerem A, et al. Among authors: dugan s. Epilepsia. 2016 Nov;57(11):1858-1869. doi: 10.1111/epi.13560. Epub 2016 Sep 26. Epilepsia. 2016. PMID: 27665735 Free article.
Ectopia lentis as the presenting and primary feature in Marfan syndrome.
Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Zadeh N, et al. Among authors: dugan s. Am J Med Genet A. 2011 Nov;155A(11):2661-8. doi: 10.1002/ajmg.a.34245. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932315
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: dugan s. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
212 results